A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

Blood Cells Mol Dis. Sep-Oct 2001;27(5):783-802. doi: 10.1006/bcmd.2001.0445.

Abstract

We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene. In a group of white, Asian, and African-American normal and iron-overloaded individuals, the coding and flanking regions of these genes were completely sequenced. Numerous coding region and promoter polymorphisms were detected. These were further examined for association with differences in iron accumulation as measured by plasma transferrin saturation and ferritin levels, but no such association could be documented.

MeSH terms

  • Antimicrobial Cationic Peptides / genetics
  • Cation Transport Proteins / genetics
  • Ceruloplasmin / genetics
  • Continental Population Groups
  • Family Health
  • Female
  • Ferritins / blood
  • Ferritins / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Hemochromatosis / epidemiology
  • Hemochromatosis / genetics*
  • Hepcidins
  • Humans
  • Iron-Regulatory Proteins / genetics
  • Male
  • Mutation
  • Promoter Regions, Genetic / genetics
  • Protein Subunits
  • Reading Frames / genetics
  • Receptors, Transferrin / genetics
  • Sequence Analysis, DNA
  • Sex Factors
  • Transferrin / analysis

Substances

  • Antimicrobial Cationic Peptides
  • Cation Transport Proteins
  • HAMP protein, human
  • Hepcidins
  • Iron-Regulatory Proteins
  • Protein Subunits
  • Receptors, Transferrin
  • Transferrin
  • metal transporting protein 1
  • Ferritins
  • Ceruloplasmin